Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.Q255H

DSG2

779 papers

RefSeq Summary

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, ce...

Pfam Domains

Cadherinaa 164–263UCSCCadherin domain
Cadherinaa 278–378UCSCCadherin domain
Cadherinaa 396–490UCSCCadherin domain

Gene Aliases

HGNC Name

desmoglein 2

HGNC Alias Symbol

CDHF5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001943.5
p.Q255H
c.765A>T
Surrounding Variants
1 paper
NM_001943.5
p.Q255H
c.765A>C
1 paper
NM_001943.5
p.Q255K
c.763C>A
1 paper
NM_001943.5
p.Q255*
c.763C>T
1 paper
NM_001943.5
p.A256A
c.768T>A
1 paper
NM_001943.5
p.Q257R
c.770A>G
1 paper
NM_001943.5
p.V253_A256del4
c.757_767del12
1 paper
NM_001943.5
p.R261H
c.782G>A
1 paper
NM_001943.5
p.R261R
c.783T>A
1 paper
NM_001943.5
p.I262I
c.786T>C
1 paper
NM_001943.5
p.L263*
c.788T>A
1 paper
NM_001943.5
p.G246G
c.738A>C
5 papers
NM_001943.5
p.D264E
c.792T>A
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